Autism

Posted on Autism

Lithium as a Potential Therapy for Autism

Scientists have discovered that lithium, a drug traditionally used to treat bipolar disorder and depression, could potentially be used to treat autism. Research conducted by the Institute for Basic Science (IBS) reveals that lithium can improve brain function and alleviate behavioural symptoms in animal models of autism caused by mutations in the Dyrk1a gene.

Autism is a developmental condition affecting 2.8% of the global population. Social challenges, repetitive behaviours, and intellectual difficulties characterize it. The significant impact on individuals and their families makes it crucial to find new treatment methods. Despite its prevalence, there are no definitive treatments for autism.

One crucial genetic factor associated with autism is mutations in the Dyrk1a gene, which can lead to symptoms such as small head size (microcephaly), language problems, and social disabilities. In mice with this mutation, researchers found that lithium could normalize brain size, improve neuron structure and function, and significantly enhance behaviours related to anxiety and social interaction. Remarkably, these positive effects lasted into adulthood, suggesting long-term benefits.

By analyzing proteins and their activities, researchers discovered that lithium’s therapeutic effects involve a molecule called Kalirin-7, which is essential for proper brain function. This breakthrough suggests that lithium helps restore balance in the brain’s communication networks, addressing core issues associated with autism.

Dr. Roh Junyeop, a senior researcher, likened the effects of lithium to clearing a traffic jam in the brain, allowing neurons to communicate smoothly. Director Kim Eunjoon emphasized that early intervention is crucial and that lithium’s effects highlight its potential as a treatment for autism.

Published in Molecular Psychiatry on December 5, this study offers hope for new therapeutic approaches, underscoring the importance of early diagnosis and intervention. It provides a promising outlook for families and individuals affected by autism.

Posted on Autism

New Genetic Discovery Sheds Light on Autism

DNA and autism
DNA and autism

Researchers have uncovered a new genetic link to autism, offering fresh insights into why the condition is more common in males. The breakthrough, detailed in The American Journal of Human Genetics, identifies variants in the DDX53 gene, located on the X chromosome, as key contributors to autism. This finding provides a deeper understanding of the biological mechanisms behind autism and could improve diagnosis and treatment.

A Genetic Clue to Male Prevalence

Autism affects more males than females, and this new study helps explain why. Researchers at The Hospital for Sick Children (SickKids) in Canada, in collaboration with the Istituto Giannina Gaslini in Italy, analyzed families with autistic members. They discovered that specific variants in the DDX53 gene were maternally inherited in individuals with autism—most of whom were male.

“By pinpointing DDX53 as a key player, particularly in males, we can better understand the biological mechanisms at play and improve diagnostic accuracy for individuals and their families,” says Dr. Stephen Scherer, Senior Scientist at SickKids and a lead researcher in the study.

The DDX53 gene is involved in brain development and function but had not previously been linked to autism. Another gene nearby, PTCHD1-AS, also showed potential involvement. For example, one boy and his mother, both autistic with minimal support needs, had a genetic deletion that included parts of DDX53 and PTCHD1-AS.

International Collaboration Strengthens Findings

This discovery resulted from a global effort involving institutions in Canada, Italy, and the United States. Using databases like Autism Speaks’ MSSNG and the Simons Foundation Autism Research Initiative, researchers identified 26 more individuals with similar DDX53 variants, strengthening the evidence for its role in autism.

Lead author Dr. Marcello Scala, from the Istituto Giannina Gaslini, highlighted the importance of this discovery:
“This gene has long eluded us. Linking DDX53 to autism not only advances clinical genetic testing but also opens up new areas of research into the behavioural traits associated with autism.”

The Bigger Picture: The Role of the X Chromosome

In a related study published alongside this one, Scherer and his team identified 59 genetic variants on the X chromosome-linked to autism. These included DMD, HDAC8, and FGF13, among others. Importantly, some of these genes, like FGF13, show sex-specific differences, further emphasizing the role of the X chromosome in autism’s male predominance.

“These findings provide new insights into the biology of the X chromosome in autism,” says Scherer. “They suggest that certain genes, such as DDX53 and FGF13, should be explored further.”

Rethinking Autism Research

Interestingly, the study points out a challenge in current research models: DDX53 does not have an equivalent gene in commonly used lab animals like mice. This means researchers must rethink how they study autism in the lab.

“Insights from this study could significantly influence the design and interpretation of autism research, particularly in developing new models,” Scherer adds.

Hope for Families

These findings could pave the way for more precise diagnostic tools and treatments for autism, bringing hope to millions of families worldwide. Scherer emphasizes the importance of these discoveries:
“Both studies provide even more evidence that complex neurobehavioral conditions like autism can sometimes have simple biological underpinnings.”

By identifying key genetic factors like DDX53, researchers are not only unraveling the mysteries of autism but also laying the groundwork for more effective support for autistic individuals and their families.

Posted on Autism

Autism: A Global Health Challenge Affecting Millions

Vast under-treatment of diabetes seen in global study

A recent global study has shed light on the significant impact of autism, revealing that an estimated 61.8 million people worldwide were autistic in 2021. This equates to 1 in every 127 individuals. Conducted as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021, the analysis highlights autism as one of the top ten contributors to non-fatal health burdens among youth under 20.

Key Findings: Disparities in Prevalence

The study highlights essential disparities in autism prevalence based on sex and region:

  • Sex Differences: Autism is nearly twice as prevalent in males, with 1,065 cases per 100,000 males globally, compared to 508 per 100,000 females.
  • Regional Variations: High-income Asia Pacific countries, such as Japan, have the highest prevalence at 1,560 cases per 100,000 people. In contrast, Tropical Latin America and Bangladesh report the lowest prevalence rates.

Despite these differences, autism is a universal condition affecting people across all age groups and regions. Rising rates of disability-adjusted life years (DALYs) associated with autism are closely linked to global population growth.

Urgent Need for Action

The findings underscore the importance of early detection and sustained support for autistic individuals and their caregivers. Key areas for improvement include:

  • Early Detection and Diagnosis: Enhanced diagnostic tools are vital, especially for adults and individuals in low- and middle-income countries where access to care is often limited.
  • Lifelong Support Services: Autism requires tailored interventions that adapt to the needs of individuals throughout their lives, encompassing education, employment, and independent living.
  • Caregiver Support: Families and caregivers often face significant challenges; resources and programs to alleviate their burden are essential.
  • Addressing Comorbidities: Targeted efforts to mitigate risks such as suicide and other health complications can improve overall outcomes.

Policy Implications

This research provides a strong foundation for shaping global policies to improve the quality of life for autistic individuals. Expanding geographic data coverage will help refine interventions while prioritizing funding for autism-focused initiatives can bridge gaps in care and access. By addressing these challenges, governments, healthcare systems, and communities can better support the millions of autistic people worldwide.

In conclusion, autism remains a pressing global health challenge, demanding coordinated action to ensure that all individuals can achieve their fullest potential. Early detection, inclusive services, and compassionate support are key to transforming outcomes and improving lives.

Posted on Autism

CHOP Researchers Identify Key Ways to Improve Police Interactions with Black Autistic Youth

Novel study emphasizes the need for improved training to recognize key behavior differences in this patient population
Policing and the autistic community

Researchers from the Center for Autism Research at the Children’s Hospital of Philadelphia (CHOP) have published a groundbreaking study highlighting critical steps to improve interactions between law enforcement and Black autistic youth. Published today in the journal Autism, the study reflects concerns from Black caregivers of Black autistic children, offering actionable insights to enhance police training and foster safer interactions.

Black autistic youth face a heightened risk of adverse outcomes during police encounters due to a combination of factors: higher police contact rates within Black communities, documented bias in the use of force, and misunderstandings of autistic behaviours. Despite this elevated risk, the perspectives of Black families have been underrepresented in research aimed at improving these interactions.

“Black families often avoid participating in research because their experiences and voices haven’t been fully valued,” said Dr. Ashlee Yates Flanagan, the study’s lead author and a psychologist at CHOP’s Center for Autism Research. “Focusing on their concerns amplifies their voices and lays the groundwork for meaningful change.”

Study Details and Key Findings
The researchers conducted in-depth interviews with 43 Black caregivers of Black autistic children. The study deliberately centred on these families’ cultural and racial context, including contributions from underrepresented researchers and discussions of race and policing in America.

The analysis revealed four key themes:

  1. Concerns About Police Training: Families are worried that officers lack the necessary training to recognize autistic behaviours, which could lead to misinterpretations and escalation.
  2. Policing of Typical Autistic Behaviors: Common behaviours like reduced eye contact or repetitive movements are often misunderstood and can be perceived as suspicious or defiant.
  3. Fear of Harm or Fatal Outcomes: Families expressed deep concerns about the potential for violence or even death during police encounters.
  4. Hope for Mindful Policing: Despite these fears, caregivers remained hopeful that targeted training and greater understanding could improve interactions.

Opportunities for Change
Caregivers emphasized equipping officers with tools to understand autistic behaviours better and respond with patience and empathy. For instance, recognizing that behaviours like avoiding eye contact may not indicate guilt but instead reflect autism-related traits could significantly reduce unnecessary escalation.

“These families are hopeful,” Dr. Yates Flanagan explained. “Their optimism highlights an opportunity for real change, and this study provides a roadmap for adapting police training to be more culturally and neurologically inclusive.”

Looking Ahead
The study underscores the need for police training programs to incorporate diverse perspectives, especially those of Black caregivers, to create meaningful change. Law enforcement can improve outcomes for all involved by addressing racial and neurological dynamics.

“Black caregivers of Black autistic youth have been overlooked in prior research, yet their insights are essential,” said senior author Dr. Julia Parish-Morris, a scientist at CHOP and Associate Professor at the University of Pennsylvania. “Our findings reveal significant gaps in police training and a clear path forward. This is a call to action to make policing safer and more effective for everyone.”

By addressing these findings, the researchers hope to reduce risks for Black autistic youth and foster positive community relationships between families and law enforcement.